Blood Pressure & Hypertension

Intronic NEDD4L variant; the G allele associates with reduced blood pressure response to thiazide diuretics

Intronic variant in the sodium bicarbonate cotransporter gene strongly associated with salt-sensitive blood pressure through enhanced renal sodium reabsorption

Missense variant in CTH (cystathionine gamma-lyase) that impairs transsulfuration; TT homozygotes have significantly elevated plasma homocysteine and reduced hydrogen sulfide bioavailability, with a ~3-fold higher risk of fatal myocardial infarction in women

Regulatory variant downstream of the NPR3 gene that reduces natriuretic peptide clearance receptor expression in vascular smooth muscle and endothelial cells

Intronic variant in NEDD4L associated with reading ability and dyslexia susceptibility

Intronic variant in the ATP2B1 calcium pump gene; the common G allele reduces PMCA1 expression in vascular tissue, impairing calcium efflux and raising blood pressure — one of the most replicated blood pressure GWAS loci across Asian and European populations

Intronic SGK1 variant associated with depression susceptibility in coronary heart disease patients, linking glucocorticoid-regulated kinase signaling to the cardiovascular-psychiatric comorbidity axis

Promoter variant in aldosterone synthase increasing CYP11B2 transcription, associated with elevated aldosterone and higher blood pressure

Intronic regulatory variant in angiotensinogen intron I that enhances HNF3β transcription factor binding, increases AGT expression, and raises blood pressure by 12–13 mmHg in transgenic models

Intronic EDN1 variant modulating endothelin-1 expression; the T allele associates with elevated ET-1 levels, increased risk of persistent pulmonary hypertension of the newborn, aneurysm rebleeding after subarachnoid hemorrhage, and altered nitric oxide metabolism in women

Missense variant in NPR3 clearance receptor disrupting Gi protein coupling, independently associated with diastolic dysfunction (OR 1.94) and reduced salt-sensitivity of blood pressure

Intronic regulatory variant near the PMCA1 calcium pump gene, one of the most replicated blood pressure GWAS hits; the common A allele reduces calcium efflux efficiency in vascular cells, raising blood pressure ~1 mmHg per allele

Intronic variant in the SPAK kinase gene that has been studied for association with blood pressure regulation through the WNK-SPAK-NCC sodium reabsorption axis

Intronic STK39 variant that increases SPAK kinase expression, raising blood pressure through excess sodium reabsorption.

Intronic variant in beta-adducin associated with hypertension susceptibility in a Japanese GWAS

Intronic NEDD4L variant

NOS3 promoter variant that reduces eNOS expression and increases hypertension risk by disrupting an ETS transcription factor binding site

Missense variant in angiotensinogen that increases AGT protein levels and raises risk of hypertension, myocardial infarction, and stroke, with stronger effects in Asian populations

Intronic CTH variant where GG homozygotes show significantly elevated preeclampsia risk; the G allele tags reduced placental H₂S production and impaired vascular adaptation during pregnancy, with no significant association with essential hypertension

Alpha-adducin missense variant that increases renal tubular sodium reabsorption by stabilizing Na+/K+-ATPase at the cell surface, causing salt-sensitive blood pressure elevation and impaired endothelial vasodilation in Trp allele carriers

Promoter variant that increases angiotensinogen gene transcription, raising plasma AGT levels and contributing to hypertension risk

3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic peptide levels and conferring cardioprotection against hypertension and metabolic syndrome

3' UTR variant in angiotensin II type 1 receptor affecting blood pressure regulation and ARB drug response

Intronic WNK1 variant where the G allele is associated with increased essential hypertension risk while the minor T allele is protective; WNK1 is the master kinase controlling renal sodium-chloride reabsorption through the NCC cotransporter

Intronic variant in the renal sodium-bicarbonate cotransporter gene SLC4A5 associated with salt sensitivity of blood pressure; A allele carriers show amplified blood pressure responses to high dietary sodium.

Intronic/3'UTR GCH1 variant tagging reduced tetrahydrobiopterin (BH4) synthesis capacity; the A allele associates with endothelial dysfunction, oxidative stress, and impaired nitric oxide production